The DOI matches its Crossref record; 34 of the 35 references it cites were found in a registry or an index; none of the 31 sources its claims cite is checked for support yet.
Adult-onset pulmonary fibrosis caused by mutations in telomerase
Open accessAbstract
Idiopathic pulmonary fibrosis (IPF) is an adult-onset, lethal, scarring lung disease of unknown etiology. Some individuals with IPF have a familial disorder that segregates as a dominant trait with incomplete penetrance. Here we used linkage to map the disease gene in two families to chromosome 5. Sequencing a candidate gene within the interval, TERT , revealed a missense mutation and a frameshift mutation that cosegregated with pulmonary disease in the two families. TERT encodes telomerase reverse transcriptase, which together with the RNA component of telomerase ( TERC ), is required to maintain telomere integrity. Sequencing the probands of 44 additional unrelated families and 44 sporadic cases of interstitial lung disease revealed five other mutations in TERT . A heterozygous mutation in TERC also was found in one family. Heterozygous carriers of all of the mutations in TERT or TERC had shorter telomeres than age-matched family members without the mutations. Thus, mutations in TERT or TERC that result in telomere shortening over time confer a dramatic increase in susceptibility to adult-onset IPF.
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Written from the paper’s full text.
TL;DR
Mutations in *TERT* or *TERC* that cause telomere shortening confer susceptibility to adult-onset idiopathic pulmonary fibrosis (IPF). The study links telomerase dysfunction to familial and sporadic IPF, with incomplete penetrance and possible smoking exacerbation.
Key findings
- Linkage in two large families mapped disease to chromosome 5p15 with a maximal LOD score of 2.8; sequencing the candidate gene *TERT* found a missense mutation (R865H) and a frameshift mutation (V747fsX766) that cosegregated with pulmonary disease.
- In 44 additional unrelated familial interstitial lung disease probands and 44 sporadic cases, five other *TERT* mutations were found (total: two frameshift deletions and five missense mutations), plus one heterozygous *TERC* mutation (r.37a>g); none of the seven *TERT* mutations were found in 94 ethnically matched controls, 200 patients with aplastic anemia, or a multiethnic panel of 528 controls.
- Heterozygous carriers of *TERT* or *TERC* mutations had shorter telomeres than age-matched family members without the mutations; in vitro TRAP assays showed frameshift mutants had little detectable telomerase activity, missense and *TERC* mutants ranged from zero to 100% of wild-type activity, and mixing V747fs with wild-type *TERT* suggested haploinsufficiency.
- Among mutation carriers, smokers died at an average age of 58 years (n = 13) versus 68 years for nonsmokers (n = 7); all affected individuals developed pulmonary fibrosis in adulthood with no history of pediatric lung disease.
Methods
- Clinical sample: 46 families with two or more cases of idiopathic interstitial lung disease (34 of 46 families had individuals with IPF) and 44 sporadic interstitial lung disease cases (31 with IPF); genomic DNA was isolated from leukocytes, and for four individuals from formalin-fixed paraffin-embedded archival samples.
- Linkage analysis: whole-genome SNP genotyping with the Illumina Linkage IVb panel of >6,000 polymorphic SNPs; MERLIN was used for multipoint model-free and model-based linkage analysis, with the highest peak on chromosome 5p15.
- Mutation and functional analysis: *TERT* exons and splice sites and 451 bp encoding *TERC* were sequenced; telomerase activity was measured by the TRAP assay using in vitro coexpressed recombinant protein and RNA; telomere length was assessed by terminal restriction fragment (TRF) Southern blot analysis of leukocyte DNA.
Limitations
- The paper does not include a formal limitations section; it states that pulmonary fibrosis appears to be a human-specific manifestation of telomerase deficiency and that it is not yet reported whether aged telomerase-deficient mice develop similar lung pathology.
- The paper notes incomplete penetrance: some family members who inherited a *TERT* mutation had no evidence of pulmonary disease, and environmental influences such as cigarette smoking may affect the phenotype.
- Evident from the text: linkage mapping relied on two families, mutation screening focused on the candidate genes *TERT* and *TERC*, and in vitro TRAP activity did not always track telomere shortening because some mutations caused telomere shortening without a detectable decrease in telomerase activity.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Sequencing a candidate gene within the interval, TERT, revealed a missense mutation and a frameshift mutation that cosegregated with pulmonary disease in the two families.”
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In the paper
“A heterozygous mutation in TERC also was found in one family.”
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In the paper
“Here we used linkage to map the disease gene in two families to chromosome 5.”
- Also stated in: § Results · plain
“Both families displayed linkage to chromosome 5p15 with a maximal logarithm of odds (LOD) score of 2.8.”
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Sequencing the probands of 44 additional unrelated families and 44 sporadic cases of interstitial lung disease revealed five other mutations in TERT.”
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In the paper
“Heterozygous carriers of all of the mutations in TERT or TERC had shorter telomeres than age-matched family members without the mutations.”
- Also stated in: § Results · plain
“When compared with normal family members of similar age, the mean telomere length was significantly shorter for those individuals who were heterozygous for a mutation in TERT or TERC (Fig. 5 A and B).”
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In the paper
“Thus, a total of two frameshift deletions and five missense mutations in TERT were identified in patients with pulmonary fibrosis (Fig. 3).”
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In the paper
“When telomere lengths were analyzed within families, the family members with clinical disease tended to have shorter TRFs than the asymptomatic carriers.”
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In the paper
“Mixing different amounts of the V747fs TERT construct with the wild-type TERT construct did not affect the activity of the wild-type protein, suggesting a mechanism of haploinsufficiency (Fig. 4D).”
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In the paper
“The proband of family F11 was heterozygous for a transition mutation (CGT → CAT) in codon 865 that is predicted to change a highly conserved arginine to a histidine.”
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In the paper
“The five missense mutations in TERT (Fig. 4 B and C) and the mutation in TERC (Fig. 4 A and C) produced levels of telomerase activity that ranged from zero to 100% of wild-type activity.”
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In the paper
“Four additional sequence variations, including three missense mutations and one 177-bp deletion, were found (Fig. 3).”
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In the paper
“None of the seven mutations were found in 94 locally collected, ethnically matched individuals, nor were they detected in 200 patients with aplastic anemia or a multiethnic panel of 528 individuals sequenced as controls (9).”
What the sources say
- Not checked yetcites [9] Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS. N Engl J Med. 2005;352:1413–1424. doi: 10.1056/NEJMoa042980. [DOI] [PubMed] [Google Scholar] source
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In the paper
“All developed pulmonary fibrosis during their adult years with no history of pediatric lung disease, in contrast with kindreds associated with surfactant protein C mutations (18, 19).”
What the sources say
- Not checked yetcites [18] Thomas AQ, Lane K, Phillips J, III, Prince M, Markin C, Speer M, Schwartz DA, Gaddipati R, Marney A, Johnson J, et al. Am J Respir Crit Care Med. 2002;165:1322–1328. doi: 10.1164/rccm.200112-123OC. [DOI] [PubMed] [Google Scholar] source
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In the paper
“None had aplastic anemia but several exhibited a mild to moderate anemia and one individual developed neutropenia after lung transplantation.”
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In the paper
“One additional missense mutation was identified involving the same arginine at codon 865 found to be mutated in family F11.”
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In the paper
“Another individual with a TERT mutation in this family had very short TRFs but did not have IPF. This individual had cirrhosis of unknown etiology.”
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In the paper
“The proband of family F31 was heterozygous for a deletion of thymidine at position 2240 in the cDNA, which creates a frameshift in the reading frame and is predicted to result in a truncated protein missing half of the reverse-transcriptase domain and the entire C-terminal region.”
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In the paper
“As expected, the mutation (V747fs, Fig. 4 A and C) missing half the reverse transcriptase domain and the mutation (E1116fs; Fig. 4C) missing the C-terminal E-IV domain had very little detectable telomerase activity.”
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In the paper
“This change was not detected in 94 ethnically matched controls but was identified previously in a person with severe aplastic anemia who was a compound heterozygote for variants in TERC (12).”
What the sources say
- Not checked yetcites [12] Ly H, Schertzer M, Jastaniah W, Davis J, Yong SL, Ouyang Q, Blackburn EH, Parslow TG, Lansdorp PM. Blood. 2005;106:1246–1252. doi: 10.1182/blood-2005-01-0247. [DOI] [PMC free article] [PubMed] [Google Scholar] source
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In the paper
“A number of individuals had evidence of axial osteoporosis; in many cases, this diagnosis preceded or was determined in the absence of lung disease.”
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In the paper
“For both families, some family members with TERT mutations exhibited other clinical features of DKC (7), such as osteoporosis/osteopenia, anemia and cancer (Table 1), but none of the affected individuals had the mucocutaneous lesions typical of DKC.”
What the sources say
- Not checked yetcites [7] Dokal I. Br J Haematol. 2000;110:768–779. doi: 10.1046/j.1365-2141.2000.02109.x. [DOI] [PubMed] [Google Scholar] source
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In the paper
“The individuals with TERT or TERC mutations have none of the physical manifestations of DKC and were all ascertained by the lung fibrosis phenotype, distinguishing them from previously described patients with mutations in these genes (6, 9, 10, 17).”
What the sources say
- Not checked yetcites [6] Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Proc Natl Acad Sci USA. 2005;102:15960–15964. doi: 10.1073/pnas.0508124102. [DOI] [PMC free article] [PubMed] [Google Scholar] source
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In the paper
“One proband of a Caucasian family (F61) was heterozygous for an adenosine and guanine at position 37.”
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In the paper
“Idiopathic pulmonary fibrosis (IPF) is an adult-onset, lethal, scarring lung disease of unknown etiology.”
- Also stated in: § Abstract · plain
“IPF is distinguished from the other interstitial lung diseases by its unknown etiology, by characteristic abnormalities on pulmonary function tests and radiographs, and by biopsy findings, which include evidence of injury occurring over time with foci of replicating fibroblasts at the interface between normal and scarred lung tissue (3).”
What the sources say
- Not checked yetcites [3] American Thoracic Society/European Respiratory Society. Am J Respir Crit Care Med. 2002;165:277–304. doi: 10.1164/ajrccm.165.2.ats01. [DOI] [PubMed] [Google Scholar] source
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In the paper
“Among the genes we evaluated was TERT, which was considered a candidate because a mutation in this gene was recently reported to cause autosomal dominant dyskeratosis congenita (DKC), a disorder in which 20% of affected individuals develop pulmonary fibrosis (6, 7).”
What the sources say
- Not checked yetcites [6] Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Proc Natl Acad Sci USA. 2005;102:15960–15964. doi: 10.1073/pnas.0508124102. [DOI] [PMC free article] [PubMed] [Google Scholar] source
- Not checked yetcites [7] Dokal I. Br J Haematol. 2000;110:768–779. doi: 10.1046/j.1365-2141.2000.02109.x. [DOI] [PubMed] [Google Scholar] source
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In the paper
“The clinical presentation of familial IPF is indistinguishable from sporadic IPF except that the age of onset tends to be earlier (55 years vs. 67 years) (4, 5).”
What the sources say
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In the paper
“All sequences were determined in both directions, the mutations were confirmed by three separate PCR amplification products, and both genes were sequenced in their entirety for all subjects.”
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In the paper
“Telomere length is also influenced by oxidative damage (24) that, in part, may explain why lung disease is the predominant phenotype and why smoking may exacerbate this disease.”
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In the paper
“The pathologic features of IPF suggest that the lung injury is focal, affecting scattered portions of the lung parenchyma and recurring over many years (21).”
What the sources say
- Not checked yetcites [21] Katzenstein AL, Myers JL. Am J Respir Crit Care Med. 1998;157:1301–1315. doi: 10.1164/ajrccm.157.4.9707039. [DOI] [PubMed] [Google Scholar] source
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In the paper
“Repeat experiments showed the same relative trend of TRAP activities.”
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In the paper
“Multiple different mutations in TERC have been described for patients with DKC (10).”
What the sources say
- Not checked yetcites [10] Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I. Nature. 2001;413:432–435. doi: 10.1038/35096585. [DOI] [PubMed] [Google Scholar] source
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In the paper
“Pulmonary fibrosis appears to be a human-specific manifestation of telomerase deficiency.”
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In the paper
“Call rates varied from 99.7–100% for Autopure-purified DNA and between 72–98% for whole-genome-amplified DNA extracted from archival samples.”
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In the paper
“Telomerase may be a marker for identifying resident stem cells that promote regeneration and prevent premature aging of the lung.”
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In the paper
“Smoking causes telomere shortening in a dose-dependent manner (22) and is associated with familial interstitial pneumonia (23).”
What the sources say
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In the paper
“Interestingly, a recent trial with high doses of the antioxidant acetylcysteine appeared to attenuate the progression of IPF (25).”
What the sources say
- Not checked yetcites [25] Demedts M, Behr J, Buhl R, Costabel U, Dekhuijzen R, Jansen HM, MacNee W, Thomeer M, Wallaert B, Laurent F, et al. N Engl J Med. 2005;353:2229–2242. doi: 10.1056/NEJMoa042976. [DOI] [PubMed] [Google Scholar] source
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In the paper
“This report provides previously undescribed molecular insight into the pathogenesis of IPF and expands the scope of diseases caused by mutations in telomerase.”
Tests✓ Asserted: passes? Checkable: unclear✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
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In the paper
“Telomere length is influenced by many different factors, including age (13, 14) and the number of generations the mutation is transmitted (6, 15).”
What the sources say
- Not checked yetcites [13] Hastie ND, Dempster M, Dunlop MG, Thompson AM, Green DK, Allshire RC. Nature. 1990;346:866–868. doi: 10.1038/346866a0. [DOI] [PubMed] [Google Scholar] source
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In the paper
“This study was approved by the University of Texas Southwestern Institutional Review Board. Written informed consent was obtained from all participants.”
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In the paper
“Such a pattern of injury could explain why the pulmonary phenotype is incompletely penetrant and may be influenced not only by the nature of the mutations but also by environmental influences, such as cigarette smoking.”
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The paper relies on this without support.
TERT encodes telomerase reverse transcriptase, which together with TERC is required to maintain telomere integrity.
“TERT encodes telomerase reverse transcriptase, which together with the RNA component of telomerase (TERC), is required to maintain telomere integrity.”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“The fact that AAV9-TERT treatment of old mice efficiently reactivated telomerase in the lungs offers a therapeutic opportunity for some cases of human pulmonary fibrosis associated with presence of short telomeres owing to telomerase mutations (Armanios et al, 2007; Tsakiri et al, 2007).”
From Telomerase gene therapy in adult and old mice delays aging and increases longevity without increasing cancer (2012) · cites this paper as Tsakiri et al, 2007
In the citing paper
“The frequency of these mutations is highest in individuals with the progressive disorder IPF, which accounts for 8–15% of familial and 1–3% of sporadic cases54,56,68,69.”
From The telomere syndromes (2012) · cites this paper as [68]
In the citing paper
“By contrast, telomere shortening is accelerated in several human premature ageing syndromes, and patients with dyskeratosis congenita and aplastic anaemia show decreased telomerase activity and shortened telomeres owing to mutations in the TERC and TERT telomerase genes.”
From The common biology of cancer and ageing (2007) · cites this paper as [63]
In the citing paper
“patients who have inherited or acquired genetic defects that limit telomere maintenance seem to be at substantially increased risk of a range of conditions including aplastic anaemia 61 , idiopathic pulmonary fibrosis 62, 63 and the rarer dyskeratosis congenita syndrome”
From The common biology of cancer and ageing (2007) · cites this paper as [63]
Citations
Cites
Telomeres shorten during ageing of human fibroblasts
Harley, C. B., Futcher, A. B., & Greider, C. W. (1990) · Nature · doi:10.1038/345458a0 · Cited by 5,750
(2002) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.165.2.ats01 · Cited by 4,196
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323
Oxidative stress shortens telomeres
von Zglinicki, T. (2002) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(02)02110-2 · Cited by 2,524
Telomerase Catalytic Subunit Homologs from Fission Yeast and Human
Nakamura, T. M., Morin, G. B., Chapman, K. B., Weinrich, S. L., Andrews, W. H., Lingner, J., Harley, C. B., & Cech, T. R. (1997) · Science · doi:10.1126/science.277.5328.955 · Cited by 2,256
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
den Dunnen, J. T., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1 · Cited by 1,757
Telomere reduction in human colorectal carcinoma and with ageing
Hastie, N. D., Dempster, M., Dunlop, M. G., Thompson, A. M., Green, D. K., & Allshire, R. C. (1990) · Nature · doi:10.1038/346866a0 · Cited by 1,650
Longevity, Stress Response, and Cancer in Aging Telomerase-Deficient Mice
Rudolph, K. L., Chang, S., Lee, H.-W., Blasco, M., Gottlieb, G. J., Greider, C., & DePinho, R. A. (1999) · Cell · doi:10.1016/s0092-8674(00)80580-2 · Cited by 1,349
Incidence and Prevalence of Idiopathic Pulmonary Fibrosis
Raghu, G., Weycker, D., Edelsberg, J., Bradford, W. Z., & Oster, G. (2006) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200602-163oc · Cited by 1,310
Self-citationIdiopathic Pulmonary Fibrosis: Clinical Relevance of Pathologic Classification
KATZENSTEIN, A.-L. A., & MYERS, J. L. (1998) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.157.4.9707039 · Cited by 1,261
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van Batenburg, A. A., van Oosterhout, M. F. M., Knoppert, S. N., Kazemier, K. M., van der Vis, J. J., Grutters, J. C., Goldschmeding, R., & van Moorsel, C. H. M. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.736485 · Cited by 8
Maitra, M., Dey, M., Yuan, W.-C., Nathanielsz, P. W., & Garcia, C. K. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.475335 · Cited by 9
“Sanger sequencing was performed as described (24).”
Self-citationRetractedFang, C., Huang, H. F., Feng, Y., Zhang, Q., Wang, N., Jing, X., Guo, J., Ferianc, M., & Xu, Z. (2021) · Scientific Reports · doi:10.1038/s41598-020-80944-4 · Cited by 9
Unclassifiable, or simply unclassified interstitial lung disease?
O’Callaghan, M., Bonella, F., & McCarthy, C. (2021) · Current Opinion in Pulmonary Medicine · doi:10.1097/mcp.0000000000000801 · Cited by 9
“TERT and TERC mutations have been identified in up to a sixth of families with FIP [43,48,66].”
BackgroundMeasuring Telomere Length—From Ends to Means
Petkova, R., Chicheva, Z., & Chakarov, S. (2011) · Biotechnology & Biotechnological Equipment · doi:10.5504/bbeq.2011.0103 · Cited by 8
Inherited Bone Marrow Failure Syndromes
Canham, L. E., & de Jong, J. L. O. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15717-2.00131-1 · Cited by 10
Nelson, N. E., Feurstein, S. K., Niaz, A., Truong, J. Q., Holien, J. K., Lucas, S. E. M., Fairfax, K. A., Dickinson, J. L., & Bryan, T. M. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.11.021 · Cited by 8
Interplay between genetics and epigenetics in lung fibrosis
Valand, A., Rajasekar, P., Wain, L. V., & Clifford, R. L. (2025) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2025.106739 · Cited by 10
Chen, J., Bryant, M., Dent, J. J., Sun, Y., Desierto, M. J., & Young, N. S. (2015) · Experimental Gerontology · doi:10.1016/j.exger.2015.10.016 · Cited by 8
“…2012), such as liver cirrhosis (Calado et al., 2011; Hartmann et al., 2011), pulmonary fibrosis (Armanios et al., 2007; Cronkhite et al., 2008; Tsakiri et al., 2007; Tsang et al., 2012), and bone marrow (BM) failure (Armanios et al., 2005; Heiss et al., 1998; Ly et al., 2005; Vulliamy et al.,…”
BackgroundChen, C., Fu, C.-H., Chern, S., Wu, P.-S., Su, J.-W., Lee, C., Lee, M., & Wang, W. (2013) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2013.06.005 · Cited by 8
Genetic testing in diffuse parenchymal lung disease
Spagnolo, P., Luppi, F., Cerri, S., & Richeldi, L. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-79 · Cited by 8
“Mutations in TERT and TERC account for 815% of familial and 1-3% of sporadic cases [18,19], but short telomere length is a more common finding in IPF - with sporadic IPF cases displaying significantly shorter telomeres compared to age-matched controls - even in the absence of telomerase mutations [20].”
BackgroundDyskeratosis Congenita and the Telomere Biology Disorders
Dodson, L. M., & Bertuch, A. A. (2018) · Pediatric oncology · doi:10.1007/978-3-319-61421-2_6 · Cited by 8
Niaz, A., Truong, J. Q., Manoleras, A., Fox, L. C., Blombery, P. A., Vasireddy, R. S., Pickett, H. A., Curtin, J. A., Barbaro, P., Rodgers, J., et al. (2022) · Blood Advances · doi:10.1182/bloodadvances.2022007029 · Cited by 8
“Most reported disease-associated TERT variants are heterozygous, and although it is well established that a completely inactive version of hTERT can act in a dominant negative fashion to impair activity of the wild-type (WT) enzyme,(40-42) this has not been described so far for any hypomorphic disease-associated TERT…”
Martínez, P., Sánchez-Vazquez, R., Saha, A., Rodríguez-Duque, M. S., Naranjo-Gonzalo, S., Osorio-Chávez, J. S., Villar, A. V., & Blasco, M. A. (2023) · Aging · doi:10.18632/aging.204755 · Cited by 9
Vapor phase SERS sensor for explosives detection
Tamane, S., Topal, Ç. Ö., & Kalkan, A. K. (2011) · IEEE International Conference on Nanotechnology (IEEE-NANO) · doi:10.1109/nano.2011.6144447 · Cited by 8
“anemia, jaundice, gastritis, cyanosis, enlarged spleen, cataracts, and hepatitis [13, 14].”
Fibrose pulmonaire idiopathique
Cordier, J.-F. (2009) · La Presse Médicale · doi:10.1016/j.lpm.2009.10.009 · Cited by 8
Genetic Analysis of Sporadic and Familial Interstitial Pneumonia
Schwartz, D. A. (2008) · Proceedings of the American Thoracic Society · doi:10.1513/pats.200710-158dr · Cited by 9
“Subsequent to the initial findings, a missense mutation and a frameshift mutation in TERT were found to cosegregate with pulmonary fibrosis in two additional families, and a mutation in TERC (the RNA component of telomerase) was found in one family (66).”
BackgroundContributions of Telomere Biology to Human Age-Related Disease
Yang, T.-L., Song, S., & Johnson, F. B. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-411596-5.00007-1 · Cited by 9
Molecular Diagnosis and Precision Therapeutic Approaches for Telomere Biology Disorders
Perona, R., Iarriccio, L., Pintado‐Berninches, L., Rodríguez-Centeno, J., Manguán-García, C., Garcia, E., López‐Ayllón, B. D., & Sastre, L. (2016) · InTech eBooks · doi:10.5772/65353 · Cited by 9
“The study of these familial forms identified mutations in TERT and TERC in 8-15 % of the cases [162, 163], establishing IPF as a telomere biology disorder.”
Telomere Damage Response and Low-Grade Inflammation
Wang, L., Yu, X., & Liu, J. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-981-10-5987-2_10 · Cited by 8
Telomerase as a Target for Cancer Therapeutics
Shay, J. W. (2010) · Springer eBooks · doi:10.1007/978-1-4419-6102-0_13 · Cited by 8
Self-citationWill the Genes Responsible for Familial Pulmonary Fibrosis Provide Clues to the Pathogenesis of IPF?
Lawson, W. E., & Loyd, J. E. (2010) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201007-1193ed · Cited by 8
Cellular plasticity and regenerative mechanisms in the lung
Zaragosi, L., Salwig, I., Wasnick, R. M., Lehmann, M., & Pardo–Saganta, A. (2026) · European Respiratory Review · doi:10.1183/16000617.0168-2025 · Cited by 8
“…TERC (telomerase RNA component) or RTEL1 (regulator of telomere elongation helicase 1) lead to critically short telomeres, end-to-end chromosomal fusions and cGAS (cyclic GMP – AMP synthase) – STING (stimulator of interferon genes) activation, thereby predisposing to familial IPF [184 – 186].”
Adaptive and Maladaptive Clonal Hematopoiesis in Telomere Biology Disorders
Lasho, T. L., & Patnaik, M. M. (2023) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-023-00719-2 · Cited by 8
“Numerous other pathogenic mono-allelic loss-of-function variants have been described along the coding region of TERT , clustering in important functional domains [18, 52–59].”
Doss, C. G. P., Chakraborty, C., Rajith, B., & Nagasundaram, N. (2013) · Journal of Molecular Modeling · doi:10.1007/s00894-013-1888-7 · Cited by 7
Short telomeres in pulmonary fibrosis: from genetics to clinical significance.
Trăilă, D., Firă-Mladinescu, O., Oancea, C. I., & Tudorache, V. (2015) · PubMed · Cited by 7
Genomic Fingerprint Associated with Familial Idiopathic Pulmonary Fibrosis: A Review
Ding, D., Gao, R., Xue, Q., Luan, R., & Yang, J. (2023) · International Journal of Medical Sciences · doi:10.7150/ijms.80358 · Cited by 7
“TERT and TERC mutations have also been validated in another study in families with f-IPF (58).”
BackgroundTelomere Shortening in Alveolar Macrophages of Smokers and COPD Patients
Tomita, K., Caramori, G., Ito, K., Lim, S., Sano, H., Tohda, Y., Adcock, I. M., & Barnes, P. J. (2010) · The Open Pathology Journal · Cited by 7
Gene dosage defects in primary immunodeficiencies and related disorders: a pilot study
Dyer, L. M., Li, X., Denton, J., Jones, B. R., Liston, E., Hilton, D., Mathur, A., Zhang, K., & Valencia, C. A. (2017) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2017.04 · Cited by 7
“Heterozygous mutations in the FAS gene cause autoimmune lymphoproliferative syndrome (ALPS), an autosomal dominant disorder, where only three CNVs have been previously described([1-4]).”
BackgroundMolecular Markers and the Promise of Precision Medicine for Interstitial Lung Disease
Newton, C. A., & Herzog, E. L. (2021) · Clinics in Chest Medicine · doi:10.1016/j.ccm.2021.03.011 · Cited by 7
Parra, E. R., Pincelli, M. S., Teodoro, W. R., Velosa, A. P. P., Martins, V., Rangel, M. P., Barbas‐Filho, J. V., & Capelozzi, V. L. (2014) · Brazilian Journal of Medical and Biological Research · doi:10.1590/1414-431x20143522 · Cited by 8
“(33) sequenced the probands of 44 unrelated families and 44 sporadic cases of interstitial lung disease and revealed mutations in telomerase reverse transcriptase (TERT) or telomerase RNA component that result in telomere shortening over time and confer a dramatic increase in the susceptibility to adult-onset IPF.”
BackgroundFueling the fire: metabolic dysfunction and senescence as drivers of lung aging and disease
Kliment, C. R., Gurkar, A. U., Cárdenes, N., Ramonell, R. P., Finkel, T., & Königshoff, M. (2026) · Physiological Reviews · doi:10.1152/physrev.00024.2025 · Cited by 6
Diagnosis of interstitial lung diseases: from Averill A. Liebow to artificial intelligence
Yi, E. S., Wawryko, P., & Ryu, J. H. (2024) · Journal of Pathology and Translational Medicine · doi:10.4132/jptm.2023.11.17 · Cited by 7
“The rare genetic variants associated with deranged telomere maintenance account for approximately 25% of FPF kindreds and involve TERT , TERC , and numerous other genes [ 53,54 ] .”
BackgroundApplication of N-Acetylcysteine in Pulmonary Disorders
Conrad, C. (2018) · Springer eBooks · doi:10.1007/978-981-10-5311-5_15 · Cited by 6
Pulmonary fibrosis associated with telomere‐related gene mutations: A complex inheritance
Borie, R., & Renzoni, E. A. (2021) · Respirology · doi:10.1111/resp.14168 · Cited by 7
“Telomere length analysis will probably help our understanding and the genetic counselling, although its exact impact still needs to be determined, not to mention the controversies surrounding technical issues.18 Other environmental and genetic risk factors for PF should probably be included in genetic counselling, whe…”
BackgroundCurrent state and future potential of AI in occupational respiratory medicine
Tran, D., Kwo, E., & Nguyen, E. H. K. (2021) · Current Opinion in Pulmonary Medicine · doi:10.1097/mcp.0000000000000852 · Cited by 6
“IPF is adult-onset, indicating that it is the combination of inherited and randomly acquired mutations that contribute to the disease state [10].”
BackgroundMMP19 Variants in Familial and Sporadic Idiopathic Pulmonary Fibrosis
Fan, Y., Zheng, C., Ma, R., Wang, J., Yang, S., & Ye, Q. (2023) · Lung · doi:10.1007/s00408-023-00652-4 · Cited by 7
“Germline mutations in TERT and TERC are found in 8–15% of patients with familial IPF and in 1–3% of patients with sporadic IPF [16, 35, 36].”
BackgroundAutophagy and Cellular Senescence in Lung Diseases
Kuwano, K., Araya, J., Hara, H., Minagawa, S., Takasaka, N., Ito, S., & Nakayama, K. (2015) · Journal of Biochemistry and Molecular Biology Research · doi:10.17554/j.issn.2313-7177.2015.01.5 · Cited by 6
Mathai, S. K., & Schwartz, D. A. (2015) · European Respiratory Journal · doi:10.1183/09031936.00052715 · Cited by 7
Behr, J., Günther, A., Ammenwerth, W., Bittmann, I., Buhl, R., Eickelberg, O., Ewert, R., Gläser, S., Gottlieb, J., Kreuter, M., et al. (2013) · Cited by 6
Kliszczak, M., Moralli, D., Jankowska, J. D., Bryjka, P., Meem, L. S., Goncalves, T., Hester, S. S., Fischer, R., Clynes, D., & Green, C. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1175069 · Cited by 6
“Premature telomere shortening is detrimental for normal cellular function and has been linked to multiple human diseases including lung fibrosis [reviewed in (Armanios, 2022) and (Armanios et al., 2007; Tsakiri et al., 2007; Alder et al., 2008; Cronkhite et al., 2008; Diaz de Leon et al., 2010)].”
BackgroundInfluentialKalungi, A., Kinyanda, E., Womersley, J. S., Joloba, M. L., Ssembajjwe, W. J., Nsubuga, R. N., Kaleebu, P., Levin, J. B., Kidd, M., Seedat, S., et al. (2021) · BMC Medical Genomics · doi:10.1186/s12920-020-00857-z · Cited by 6
“TERT rs2736100 has previously been associated with diseases characterized by TL attrition, including lung cancer [78] and sporadic idiopathic pulmonary fibrosis [75, 76, 79].”
BackgroundEXPLORATION OF THE GENES RESPONSIBLE FOR UNLIMITED PROLIFERATION OF IMMORTALIZED LUNG FIBROBLASTS
Hiyama, K., Tanimoto, K., Nishimura, Y., Tsugane, M., Fukuba, I., Sotomaru, Y., Hiyama, E., & Nishiyama, M. (2008) · Experimental Lung Research · doi:10.1080/01902140802221912 · Cited by 6
“What controls the proliferation of fibroblasts? Why do ILDs principally occur in elderly rather than young people, and rarely in children? How can we obtain the answers? Recently, mutations in telomerase reverse transcriptase (TERT) or telomerase RNA component (TERC) gene encoding telomerase protein or RNA component,…”
BackgroundBeyond Telomerase: Telomere Instability as a Novel Target for Cancer Therapy
Zhou, M. F.-M. Q. (2013) · Journal of Molecular and Genetic Medicine · doi:10.4172/1747-0862.1000091 · Cited by 6
“Deregulation of telomere maintenance, or telomere instability, is directly associated with many diseases such as cancer [8], dyskeratosis congenita [9,10], idiopathic pulmonary fibrosis [11,12], Coats Plus disease [13], aplastic anemia [14], as well as bone marrow failure [15] and premature aging syndromes [16].”
Short Telomeres and Treatment of Pulmonary Fibrosis: Implications for Early Intervention
Antoniou, K. M., Papadaki, H. Α., Soufla, G., & Siafakas, N. M. (2009) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.179.10.970 · Cited by 6
Study of the associations between short telomeres, sex hormones and pulmonary fibrosisPreprint
Duckworth, A., Ruth, K. S., Prague, J., Russell, A., Almond, H., Conway, J., Beaumont, R. N., Wood, A. R., Martin, S., Lunnon, K., et al. (2022) · medRxiv · doi:10.1101/2022.09.29.22280270 · Cited by 8
Diagnosis and Management of Pulmonary Manifestations of Telomere Biology Disorders
del Valle, K. T., & Carmona, E. M. (2023) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-023-00720-9 · Cited by 7
“Several studies have shown that mutations in telomere-related genes are commonly implicated in these cases [10, 11].”
CSP7 Protects Alveolar Epithelial Cells by Targeting p53 -Fibrinolytic Pathways During Lung Injuries
Puthusseri, B., Bhagavath, A. K., Korir, D., Shetty, R. R., Johnson, G. A., Stankowska, D. L., Konduru, N. V., Tang, H., Bolla, S., Criner, G. J., et al. (2024) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2023-0453oc · Cited by 7
Cellular therapies for idiopathic pulmonary fibrosis: current progress and future prospects
Le, N. T. (2024) · American Journal of Stem Cells · doi:10.62347/daks5508 · Cited by 5
Cerri, S., Manzini, E., Nori, O., Pacchetti, L., Rossi, L., Turchiano, M. G., Samarelli, A. V., Raineri, G., Andrisani, D., Gozzi, F., et al. (2024) · Medicina · doi:10.3390/medicina60121967 · Cited by 6
“In sporadic IPF, short telomeres are associated with worse survival outcomes [32], suggesting that the pathways involved in familial disease related to telomere dysfunction (even in the absence of genetic mutations) may also contribute to sporadic forms of the disease [33,34].”
Telomere in Aging and Age-Related Diseases
Meiliana, A., Dewi, N. M., & Wijaya, A. (2017) · The Indonesian Biomedical Journal · doi:10.18585/inabj.v9i3.361 · Cited by 6
Idiopathic Interstitial Pneumonias
Selman, M., Morrison, L. D., Noble, P. W., & King, T. E. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-4710-0.00057-2 · Cited by 5
Mechanisms and markers of lung ageing in health and disease
Miller, Z., Twardowski, L.-M., Reader, B. F., Rojas, M. M., Lehmann, M., & Mora, A. L. (2025) · European Respiratory Review · doi:10.1183/16000617.0233-2024 · Cited by 10
“In relation to disease, mutations in telomere maintenance genes have been found in families with inherited IPF [6 – 8] and most IPF patients have short telomeres regardless of age [9 – 11].”
INSIGHTS INTO DISEASES OF HUMAN TELOMERASE FROM DYNAMICAL MODELING
Flores, S. C., Zemora, G., & Waldsich, C. (2012) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789814447973_0020 · Cited by 5
“The hTERT variants carrying mutations K570N, R865C, K902N had been identified in patients with DC, AA or IPF (23-25).”
BackgroundNMR assignments of the N-terminal domain of Ogataea polymorpha telomerase reverse transcriptase
Polshakov, V. I., Petrova, O. A., Parfenova, Y. Y., Vladimirovich, E. S., Klochkov, V. V., Zvereva, M. I., & Донцова, О. А. (2015) · Biomolecular NMR Assignments · doi:10.1007/s12104-015-9663-6 · Cited by 5
“Telomerase activation in cancer cells is one of the factors which determines their increased growth potential (Kim et al. 1994), therefore telomerase was selected as a promising target for the development of anticancer drugs (Xu et al. 2011).”
BackgroundYunt, Z. X., Aschner, Y., & Brown, K. M. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-54431-3.00010-x · Cited by 5
Syndromes Associated with Telomere Shortening
Nag, S. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.88792 · Cited by 4
Šelb, J., Osolnik, K., Kern, I., Korošec, P., & Rijavec, M. (2022) · Cells · doi:10.3390/cells11030372 · Cited by 5
“Before the widespread use of next generation sequencing (NGS), causative, pathogenic variants were discovered in up to 15% [20,21] of individuals with familial and in up to 3% [1,20] of individuals with sporadic IPF.”
BackgroundNicholson, A. G., & Rice, A. J. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139018760.013 · Cited by 5
Mohning, M. P., Downey, G. P., Cosgrove, G. P., & Redente, E. F. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-54431-3.00003-2 · Cited by 6
Wilcox, M. E., Rivera, M. P., Sassoon, C. S. H., Ware, L. B., Wunsch, H., & Herridge, M. S. (2012) · Proceedings of the American Thoracic Society · doi:10.1513/pats.201206-033tt · Cited by 5
Environment and sex control lifespan and telomere length in wild-derived African killifishPreprint
Reichard, M., Giannetti, K., Ferreira, T., Vrtílek, M., Polačik, M., Blažek, R., & Ferreira, M. G. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.09.03.280792 · Cited by 5
hTERT Increases TRF2 to Induce Telomere Compaction and Extend Cell Replicative Lifespan
Adam, N., Yang, Y., Djamshidi, M., Seifan, S., Ting, N. S. Y., Glover, J., Touret, N., Gordon, P. M. K., Warriyar, K. V. V., Krowicki, H., et al. (2025) · Aging Cell · doi:10.1111/acel.70105 · Cited by 4
“…with wild-type (WT) and mutant forms of the hTERT subunit of telomerase (Figure 1A) that in patients result in rare autosomal dominant hereditary disease characterized by early death due to pulmonary fibrosis and to aplastic anemia (Garcia et al. 2007; Tsakiri et al. 2007; Tsang et al. 2012).”
InfluentialSelf-citationDuckworth, A., Jackson, L. M., Green, H., Khan, A., Wang, C., Condescu, A., Hawkes, G., Noth, I., Martínez, F. J., Raghu, G., et al. (2026) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(25)00405-9 · Cited by 9
Self-citationEpidemiology of idiopathic pulmonary fibrosis in central and Western Pennsylvania
Linkov, F. Y., Chang, Y., Ramanan, H., Morgan, R. S., McTigue, K. M., Dimmock, A. E. F., Bascom, R., & Kass, D. J. (2025) · Respiratory Research · doi:10.1186/s12931-025-03164-2 · Cited by 4
“A surge in our understanding of IPF pathogenesis including the discovery of the role of genetic risk factors [12–16], the increasing recognition of pre-morbid “interstitial lung abnormalities,” the role of aging [17–19], and the availability of therapies [20, 21] all point to the need to study IPF…”
Jo, H. E., Corte, T. J., Wort, S. J., Eves, N. D., Piper, A. J., & Wainwright, C. E. (2016) · Respirology · doi:10.1111/resp.12749 · Cited by 4
Familial pulmonary fibrosis - guidelines for diagnostics and treatment
Šterclová, M., Doubek, M., & Doubková, M. (2020) · Vnitřní lékařství · doi:10.36290/vnl.2020.103 · Cited by 4
Non-pulmonary complications after lung transplantation: Part I
Kanade, R., Kler, A., & Banga, A. (2021) · Indian Journal of Thoracic and Cardiovascular Surgery · doi:10.1007/s12055-021-01223-z · Cited by 4
Mutairy, E. A., Qattan, S. M. A., Khalid, M., Al-Enazi, A. A., Al‐Saif, M., Imtiaz, F., Ramzan, K., Raveendran, V. V., Alaiya, A. A., Meyer, B. F., et al. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1282868 · Cited by 5
Telomeropathies in Interstitial Lung Disease and Lung Transplant Recipients
Southern, B. D., & Gadre, S. K. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14051496 · Cited by 6
“Mutations in any of these components can lead to shortened telomeres, causing IPF and other disorders [11–14] (Table 1).”
Sugino, S., Bortz, B., Vaida, S. J., Karamchandani, K., & Janicki, P. K. (2015) · A & A Case Reports · doi:10.1213/xaa.0000000000000198 · Cited by 4
The Function of Epithelial Cells in Pulmonary Fibrosis
Jia, S., & Kim, K. K. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-803809-3.00007-5 · Cited by 4
Kreuter, M., Brunnemer, E., Ehlers-Tenenbaum, S., Kahn, N. C., Bruhwyler, J., & Kolb, M. R. J. (2016) · European Respiratory Society eBooks · doi:10.1183/2312508x.10006015 · Cited by 4
Telomere length as a biomarker of aging and diseases
Guzonjić, A., Sopić, M., Ostanek, B., & Kotur‐Stevuljević, J. (2022) · Arhiv za farmaciju · doi:10.5937/arhfarm72-36376 · Cited by 4
Groen, K., van der Vis, J. J., van Batenburg, A. A., Kazemier, K. M., Grutters, J. C., & van Moorsel, C. H. M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24032790 · Cited by 5
Whole-Exome Sequencing Insights into Adult Pulmonary Fibrosis. Repeating the Telomere Theme
Garcia, C. K. (2017) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201701-0194ed · Cited by 4
Self-citationZhang, K., Wang, L., Chen, H., Shi, Y., Liu, Y., Liu, J., Hong, X., & Liu, J. (2021) · Clinical and Experimental Pharmacology and Physiology · doi:10.1111/1440-1681.13472 · Cited by 4
RetractedTelomeres and the Arithmetic of Human Longevity
Aviv, A., & Bogden, J. D. (2010) · Springer eBooks · doi:10.1007/978-90-481-3999-6_18 · Cited by 4
Telomeres and Telomerase in Humans
Hiyama, K., Hiyama, E., & Shay, J. W. (2009) · Humana Press eBooks · doi:10.1007/978-1-60327-879-9_1 · Cited by 4
Self-citationDynamics and plasticity of chromosome ends: consequences in human pathologies
Schluth‐Bolard, C., Ottaviani, A., Bah, A., Boussouar, A., Gilson, É., & Magdinier, F. (2011) · Atlas of Genetics and Cytogenetics in Oncology and Haematology · doi:10.4267/2042/44767 · Cited by 5
“In a signif icant percentage of cases, this pathology has been associ ted with mutations in TERC or HTERT (Tsakiri et al., 2007), which are different from those usually obser ved in patients with DC.”
BackgroundInnovations thérapeutiques de la fibrose pulmonaire idiopathique
Uzunhan, Y., Nunès, H., Gille, T., Bron, C., Planès, C., & Valeyre, D. (2011) · La Presse Médicale · doi:10.1016/j.lpm.2011.07.009 · Cited by 6
The Genetics of Interstitial Lung Diseases
Borie, R., Guen, P. L., Ghanem, M., Taillé, C., Mathai, S. K., Dieudé, P., Kannengiesser, C., & Crestani, B. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.11453-9 · Cited by 4
Polygenic Risk and Rare Variants in Endotypes of Idiopathic Pulmonary FibrosisPreprint
Duckworth, A., Jackson, L. M., Green, H., Khan, A., Wang, C., Condescu, A., Hawkes, G., Noth, I., Martínez, F. J., Raghu, G., et al. (2025) · medRxiv · doi:10.1101/2025.05.22.25328177 · Cited by 4
Self-citationShortened Telomere Length as a Risk Factor for Idiopathic Pulmonary Fibrosis: A Meta-Analysis
Fachrucha, F., Syuaib, F. I., Purwono, A., Nurwidya, F., Andarini, S., Burhan, E., & Wiyono, W. H. (2025) · The Open Respiratory Medicine Journal · doi:10.2174/0118743064421488251017061020 · Cited by 3
Immunological mechanisms and therapeutic approaches in pulmonary fibrosis
Nell, L. M., Hendriks, R. W., Wijsenbeek, M. S., Corneth, O. B. J., & Koudstaal, T. (2026) · European Respiratory Review · doi:10.1183/16000617.0227-2025 · Cited by 3
“Genetically determined telomere shortening and misfolded surfactant proteins exaggerate this vulnerability, explaining why some individuals develop widespread epithelial attrition after seemingly modest insults [33].”
Klinaki, E., & Ogrodnik, M. B. (2024) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2024.111929 · Cited by 3
Potential therapeutic targets of fibrosis in inflammatory rheumatic diseases
Jiang, S., Desmarais, J., Chu, C., & Zhu, J. (2024) · Best Practice & Research Clinical Rheumatology · doi:10.1016/j.berh.2024.101945 · Cited by 3
Chilosi, M., Piciucchi, S., Ravaglia, C., Spagnolo, P., Sverzellati, N., Tomassetti, S., Wuyts, W. A., & Poletti, V. E. (2024) · Pulmonology · doi:10.1016/j.pulmoe.2024.05.005 · Cited by 6
Genetic underpinning of idiopathic pulmonary fibrosis: the role of mucin
Kiaei, S. Z. F., & Schwartz, D. A. (2025) · Expert Review of Respiratory Medicine · doi:10.1080/17476348.2025.2464035 · Cited by 3
“These variations led to shortened telomeres without any other concurrent manifestations of dyskeratosis congenita [30].”
Yin Yang-1(YY-1) expression in idiopathic pulmonary fibrosis
Margaritopoulos, G., Antoniou, K. M., Soufla, G., Vassalou, E., Spandidos, D. A., & Siafakas, N. M. (2011) · Journal of Receptors and Signal Transduction · doi:10.3109/10799893.2011.557735 · Cited by 3
Interstitial and Restrictive Pulmonary Disorders
Lawson, W. E., & Loyd, J. E. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00065-3 · Cited by 3
Randell, S. H., Burns, K. A., & Boucher, R. C. (2009) · Elsevier eBooks · doi:10.1016/b978-0-12-374001-4.00016-x · Cited by 4
The role of telomere dysfunction in genomic instability and age-related diseases
Xu, L., Zhang, K., & Cong, Y. (2021) · Genome Instability & Disease · doi:10.1007/s42764-021-00052-z · Cited by 3
Non-pulmonary complications after lung transplantation: part II
Kanade, R., Kler, A., & Banga, A. (2021) · Indian Journal of Thoracic and Cardiovascular Surgery · doi:10.1007/s12055-021-01231-z · Cited by 3
Guérin, C., Crestani, B., Dupin, C., Kawano-Dourado, L. B., Ba, I., Kannengiesser, C., & Borie, R. (2022) · Revue des Maladies Respiratoires · doi:10.1016/j.rmr.2022.03.011 · Cited by 4
Altered Nucleotide Insertion Mechanisms of Disease-Associated TERT Variants
Welfer, G. A., Borin, V. A., Cortez, L. M., Opresko, P. L., Agarwal, P. K., & Freudenthal, B. (2023) · Genes · doi:10.3390/genes14020281 · Cited by 3
“The A255V TERT variant is associated with IPF, BMF, and cancer [45–47,68].”
BackgroundInfluentialInvestigational gene expression inhibitors for the treatment of idiopathic pulmonary fibrosis
Spagnolo, P., Tonelli, R., Mura, M., Reisman, W. M., Sotiropoulou, V., & Tzouvelekis, A. (2025) · Expert Opinion on Investigational Drugs · doi:10.1080/13543784.2025.2462592 · Cited by 3
“An additional area of major interest is represented by patients with familial forms of lung fibrosis and specific gene mutations, mainly genes involved in telomere biology, which represents approximately 15% of familial cases [246].”
The Role of Tyrosine Kinases in the Pathogenesis and Treatment of Lung Disease
Lam, J., & Stewart, J. (2012) · InTech eBooks · doi:10.5772/37901 · Cited by 3
“…et al., 2011) and human telomerase reverse transcriptase (TERT) and telomerase RNA component (TERC) (Alder et al., 2008; Armanios et al., 2007; Cronkhite et al., 2008; Tsakiri et al., 2007). www.intechopen.com Advances in Protein Kinases 196 At present, there is no effective treatment for IPF.”
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Garcia, C. K. (2012) · Proceedings of the American Thoracic Society · Cited by 3
Self-citation
Metadata
- Authors
- Tsakiri, K. D., Cronkhite, J. T., Kuan, P. J., Xing, C., Raghu, G., Weissler, J. C., Rosenblatt, R. L., Shay, J. W., & Garcia, C. K.
- Affiliations
- *McDermott Center for Human Growth and Development,
- University of Washington Medical Center (US)
- Department of Internal Medicine, Division of Pulmonary and Critical Care Medicine,
- The University of Texas Southwestern Medical Center (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2007-05
- Volume
- 104
- Issue
- 18
- Pages
- 7552-7557
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC1855917
- OpenAlex
- W2115176808
- Cited by
- 894
- References
- 35
- Citations by year
- 2026: 24 · 2025: 35 · 2024: 30 · 2023: 35 · 2022: 49 · 2021: 62 · 2020: 54 · 2019: 43 · 2018: 45 · 2017: 41 · 2016: 40 · 2015: 61 · 2014: 50 · 2013: 50 · 2012: 53
- FWCI
- 47.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Cancer Institute (P50CA75907, P50CA070907)
- National Center for Research Resources (K23RR020632)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Occupational and environmental lung diseases
- Keywords
- idiopathic pulmonary fibrosis, telomerase reverse transcriptase, TERC, telomerase RNA, telomere shortening, genetic linkage, familial pulmonary fibrosis, missense mutations, frameshift mutation, interstitial lung disease, genetic susceptibility, chromosome 5
- MeSH terms
- Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Animals, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Pedigree, Pulmonary Fibrosis, Sequence Alignment, Telomere, Age of Onset, Telomerase
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